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  3. CLDN14
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Deafness_Isolated

Gene: CLDN14

Green List (high evidence)
CLDN14 (claudin 14)
EnsemblGeneIds (GRCh38): ENSG00000159261
EnsemblGeneIds (GRCh37): ENSG00000159261
OMIM: 605608, Gene2Phenotype
CLDN14 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 50 affected individuals from multiple families reported. Many of the reported variants are believed to be founder variants from Pakistan and Newfoundland and Labrador Province. Mouse model. DEFINITIVE by ClinGen.
Created: 28 Sep 2020, 9:14 a.m. | Last Modified: 28 Sep 2020, 9:14 a.m.
Panel Version: 0.418

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 29, MIM# 614035

Publications

Created: 28 Sep 2020, 9:14 a.m.
Last Modified: 28 Sep 2020, 9:14 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.418

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 29, MIM# 614035
OMIM
605608
Clinvar variants
Variants in CLDN14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cldn14 has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLDN14 were changed from to Deafness, autosomal recessive 29, MIM# 614035

3 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLDN14 were set to

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLDN14 was added gene: CLDN14 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CLDN14 was set to BIALLELIC, autosomal or pseudoautosomal